Overview Making a precise genetic, molecular diagnosis provides substantial value to families, even if there is no disease-specific treatment. A specific genetic diagnosis can narrow the horizon of prognostic possibility and help families to identify and network with other similarly…
Acetazolamide Actions: A weak diuretic and carbonic anhydrase inhibitor. Contraindications: Hyponatremia, hypokalemia, hyperchloremic acidosis, adrenocortical insufficiency, a history of allergy to sulfa drugs (a sulfonamide derivative), and significant renal, or hepatic dysfunction. Main drug interactions: Increases the serum levels of…
Introductions A common presenting problem in neurology is the existence of disorders that present with neurological symptoms, but that are atypical for and incongruent with known neurologic disorders. Many different terms have been used to describe these disorders including “hysterical,…
Introduction and Overview Recognizing and managing drug-induced movement disorders (DIMDs) in children poses many challenges. Prescribed medications as well as drugs of abuse can induce a variety of movement disorders including tremor, akathisia, hypokinetic/rigid syndromes (parkinsonism), dystonia, chorea, ataxia, tics,…
Introduction and Overview Caring for children with movement disorders involves substantial exposure to psychiatric diagnoses. This is especially the case in patients with functional (psychogenic) movement disorders, discussed in Chapter 23 . Subthreshold symptoms as well as overt psychiatric diagnoses…
Introduction The term cerebral palsy ( CP ) has been considered by some to be a nonspecific “wastebasket” and by others a valuable diagnostic tool that provides individuals with greater access to medical care, rehabilitation, educational, and social services. The…
Introduction Sleep is a universal experience; infants spend more than half of their time sleeping and adults about one-third of the day asleep. Sleep is an active process, often accompanied by various movements, some of which are normal, whereas others…
Introduction An autoimmune disorder indicates an acquired process targeting the nervous system involving either autoreactive lymphocytes (T or B cells) or autoantibodies. These disorders are complex, multifactorial entities with potential involvement of underlying genetic vulnerabilities, innate and acquired immune systems,…
Inborn errors of metabolism (IEM) are inherited disorders characterized by abnormalities in enzyme or other cellular proteins involved in metabolism. These are relatively common problems, often possessing both systemic issues and coexisting movement disorders. Approximately one-third of patients with an…
Introduction and Overview This chapter focuses on the clinically and genetically heterogeneous neurodegenerative disorders known as hereditary spastic paraplegias (HSPs), emphasizing those that may begin in childhood. The primary feature of these diseases is bilateral leg spasticity when walking. ,…